Results 191 to 200 of about 1,702,970 (343)

Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

Proceedings of the National Academy of Sciences of the United States of America, 2015
L. K. Myrick, P. Deng, H. Hashimoto, Y. M. Oh, Yongcheol Cho, Mickael Poidevin, Joshua A. Suhl, J. Visootsak, V. Cavalli, P. Jin, Xiaodong Cheng, S. Warren, V. Klyachko   +12 more
semanticscholar   +1 more source

Population pharmacokinetic/pharmacodynamic modelling to evaluate favipiravir in combination with lopinavir–ritonavir in patients with COVID‐19

British Journal of Clinical Pharmacology, EarlyView.
Aims The repurposed use of favipiravir in COVID‐19 has been reported to have limited clinical efficacy, yet it has been widely used in some countries. Favipiravir causes mutagenesis in RNA viruses, and it is currently unknown whether it may have a measurable effect on the virus in humans.
Akosua A. Agyeman, Laura Buggiotti, Li‐An K. Brown, Jose A. Guerra‐Assuncao, Japhette E. Kembou‐Ringert, Wen Y. Mak, Judith Breuer, David M. Lowe, Joseph F. Standing, FLARE Investigators   +9 more
wiley   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Missense mutation of <i>BMP1</i> may cause feline osteogenesis imperfecta without bone deformity. [PDF]

J Vet Diagn Invest
Takanosu M, Aoki H, Toshima A, Kagawa Y.
europepmc   +1 more source

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.

Journal of the American Society of Nephrology, 2015
G. Hall, R. Gbadegesin, P. Lavin, Guanghong Wu, Yangfan P. Liu, Edwin C. T. Oh, Liming Wang, R. Spurney, Jason Eckel, Thomas Lindsey, Alison Homstad, Andrew F. Malone, P. Phelan, A. Shaw, D. Howell, P. Conlon, N. Katsanis, M. Winn   +17 more
semanticscholar   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

A Novel Missense Mutation in a Compound Heterozygous Patient with Fish-Eye Disease: A Case Report. [PDF]

Case Rep Ophthalmol
Sitto MM, Moin KA, Hoopes PC, Moshirfar M.   +3 more
europepmc   +1 more source

Comprehensive assessment of cancer missense mutation clustering in protein structures

Proceedings of the National Academy of Sciences of the United States of America, 2015
A. Kamburov, M. Lawrence, P. Polak, I. Leshchiner, K. Lage, T. Golub, E. Lander, G. Getz   +7 more
semanticscholar   +1 more source